DNAAF6 dynein axonemal assembly factor 6

Information
Symbol
DNAAF6
Type
protein-coding
Description
dynein axonemal assembly factor 6
Entrez Gene ID
139212
Genome
hg19
Position
chrX:106,449,841-106,487,477
Genome
hg38
Position
chrX:107,206,611-107,244,247
MIM
300933 OMIM
HGNC
HGNC:28570 HGNC
Ensembl
ENSG00000080572 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 4
Benign 0 32
Likely benign 0 32
not provided 6 0
Uncertain significance 0 44
Ranking
ClinVar
0
0
6
112
6
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CILD36
SYNONYM CXorf41
SYNONYM NYSAR97
SYNONYM PIH1D3
SYNONYM TWISTER
MIM 300933 OMIM
HGNC HGNC:28570 HGNC
Ensembl ENSG00000080572 Ensembl
AllianceGenome HGNC:28570
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000336387.4 hg38 chrX 107,207,148 107,243,364 36,217
ENST00000688816.1 hg38 chrX 107,206,611 107,244,247 37,637
ENST00000372453.8 hg38 chrX 107,206,611 107,244,247 37,637
ENST00000372453.8 hg19 chrX 106,449,841 106,487,477 37,637
ENST00000688816.1 hg19 chrX 106,449,841 106,487,477 37,637
ENST00000336387.4 hg19 chrX 106,450,378 106,486,594 36,217
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